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Results: 1-7 |
Results: 7
Genetic hearing impairment: the primary cause of sensorineural hearing defects in the child.
Authors: Lina-Granade, G Morle, L Alloisio, N Edery, P Plauchu, H Truy, E Disant, F Collet, L
Citation: G. Lina-granade et al., Genetic hearing impairment: the primary cause of sensorineural hearing defects in the child., ARCH PED, 8(3), 2001, pp. 308-312
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
Authors: Morle, L Bozon, M Alloisio, N Latour, P Vandenberghe, A Plauchu, H Collet, L Edery, P Godet, J Lina-Granade, G
Citation: L. Morle et al., A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss, J MED GENET, 37(5), 2000, pp. 368-370
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
Authors: Ribeiro, ML Alloisio, N Almeida, H Gomes, C Texier, P Lemos, C Mimoso, G Morle, L Bey-Cabet, F Rudigoz, RC Delaunay, J Tamagnini, G
Citation: Ml. Ribeiro et al., Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3, BLOOD, 96(4), 2000, pp. 1602-1604
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15
Authors: Morle, L Bozon, M Zech, JC Alloisio, N Raas-Rothschild, A Philippe, C Lambert, JC Godet, J Plauchu, H Edery, P
Citation: L. Morle et al., A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15, AM J HU GEN, 67(6), 2000, pp. 1592-1597
Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss
Authors: Alloisio, N Morle, L Bozon, M Godet, J Verhoeven, K Van Camp, G Plauchu, H Muller, P Collet, L Lina-Granade, G
Citation: N. Alloisio et al., Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss, EUR J HUM G, 7(2), 1999, pp. 255-258
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14
Authors: Zech, JC Morle, L Vincent, P Alloisio, N Bozon, M Gonnot, C Milazzo, S Grange, JD Trepsat, C Godet, J Plauchu, H
Citation: Jc. Zech et al., Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14, GR ARCH CL, 237(5), 1999, pp. 387-393
Suppression of CDA II expression in a homozygote
Authors: Beauchamp-Nicoud, A Schischmanoff, PO Alloisio, N Boivin, P Parsons, SF Mielot, F Tchernia, G Legrand, A del Giudice, EM Gasparini, P Iolascon, A Wickramasinghe, SN Delaunay, J
Citation: A. Beauchamp-nicoud et al., Suppression of CDA II expression in a homozygote, BR J HAEM, 106(4), 1999, pp. 948-953
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